Updated by: Arabinda Naik
Autosomal Disorder: Autosomal disorders are caused by mutations in genes located on autosomes, which are the non-sex chromosomes. In humans, there are 22 pairs of autosomes (chromosomes 1 to 22).
Autosomal Disorder: Autosomal disorders can be inherited in an autosomal dominant or autosomal recessive manner. Autosomal dominant disorders are expressed when only one copy of the mutant gene is present, while autosomal recessive disorders require two copies (one from each parent) for expression.
Autosomal Disorder: Autosomal disorders generally do not show a significant gender bias in their prevalence. Both males and females can be affected equally.
Autosomal Disorder: Autosomal disorders can affect various organ systems and have a wide range of clinical manifestations. They can impact both males and females equally.
Examples of autosomal disorders include cystic fibrosis and sickle cell anemia,
Sex Chromosomal Disorder: Sex chromosomal disorders, on the other hand, are caused by mutations in genes located on the sex chromosomes. In humans, the sex chromosomes are X and Y, and the combination of these chromosomes determines an individual's sex (XX for females and XY for males).
Sex Chromosomal Disorder: Sex chromosomal disorders usually involve the X chromosome. They can be inherited in an X-linked dominant or X-linked recessive manner. X-linked dominant disorders may be expressed with only one copy of the mutant X-linked gene, while X-linked recessive disorders typically require two copies of the mutant gene, usually affecting males more often because they have only one X chromosome.
Sex Chromosomal Disorder: Sex chromosomal disorders often show a gender-specific pattern. For example, X-linked disorders are more common in males because they have only one X chromosome. Females have two X chromosomes, so even if one carries a mutation, the other may compensate for it in many cases.
Sex Chromosomal Disorder: Sex chromosomal disorders often involve specific characteristics associated with the sex chromosomes, such as sexual development and secondary sexual characteristics. For example, individuals with Klinefelter syndrome have an extra X chromosome (XXY) and may exhibit male hypogonadism and other associated features.
Examples of sex chromosomal disorders include Turner syndrome (XO), Klinefelter syndrome (XXY), and X-linked recessive conditions like haemophilia.